Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 196 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P78504 pleiotropic VAR_026303 p.Val45Leu Non-Disease rs183974372 0.0028 -
P78504 pleiotropic VAR_026301 p.Ile39Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026309 p.Cys92Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026307 p.Cys78Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013203 p.Gly386Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026322 p.Cys271Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013194 p.Arg184His Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013201 p.Cys284Phe Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026308 p.Cys92Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013191 p.Pro163Leu Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013207 p.Cys753Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_048985 p.Val146Ile Non-Disease rs6040067 0.0138 -
P78504 pleiotropic VAR_013189 p.Pro129Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026311 p.Pro123Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013199 p.Cys229Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026312 p.Ala155Pro Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026325 p.Cys693Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013205 p.Cys731Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026329 p.Arg889Gln Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026335 p.Arg937Gln Disease rs145895196 0.0022 Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013197 p.Cys220Phe Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013190 p.Ile152Thr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013187 p.Leu79His Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026320 p.Gly256Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026332 p.Cys911Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026333 p.Ser913Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013202 p.Trp288Cys Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026328 p.Pro871Arg Non-Disease rs35761929 0.0427 -
P78504 pleiotropic VAR_026300 p.Gly33Val Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026306 p.Phe75Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013206 p.Cys740Arg Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013186 p.Leu37Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026299 p.Gly33Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013188 p.Ala127Thr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026323 p.Asn504Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026327 p.Arg818Lys Non-Disease - - -
P78504 pleiotropic VAR_026319 p.Arg252Gly Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013193 p.Arg184Gly Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013204 p.Cys438Phe Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026326 p.Cys714Tyr Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026297 p.Ala31Val Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026302 p.Leu40Pro Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013192 p.Arg184Cys Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013196 p.Cys187Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026298 p.Gly33Asp Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_013195 p.Arg184Leu Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026310 p.Ile120Asn Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026314 p.Tyr181Asn Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026330 p.Cys902Ser Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]
P78504 pleiotropic VAR_026317 p.Trp224Cys Disease - - Alagille syndrome 1 (ALGS1) [MIM:118450]